Variant report

Variant	nsv136336
Chromosome Location	chr19:18390665-18390665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:350)
CpG islands
(count:0)
Chromatin interactive
region (count:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:18389818-18390682	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:18390153-18390869	K562	blood:	n/a	n/a
3	ATF2	chr19:18390189-18390978	GM12878	blood:	n/a	n/a
4	ATF2	chr19:18389710-18390929	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr19:18390026-18391113	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr19:18390173-18391631	GM12878	blood:	n/a	n/a
7	ATF3	chr19:18390225-18390732	K562	blood:	n/a	n/a
8	BACH1	chr19:18389628-18391029	K562	blood:	n/a	n/a
9	BCL3	chr19:18390091-18390711	A549	lung:	n/a	n/a
10	BCLAF1	chr19:18390124-18391491	K562	blood:	n/a	n/a
11	BCLAF1	chr19:18388705-18391028	K562	blood:	n/a	n/a
12	BCLAF1	chr19:18390076-18390934	GM12878	blood:	n/a	n/a
13	BCLAF1	chr19:18390116-18391731	GM12878	blood:	n/a	n/a
14	BHLHE40	chr19:18390147-18391497	GM12878	blood:	n/a	n/a
15	BRCA1	chr19:18390135-18390764	GM12878	blood:	n/a	n/a
16	BRCA1	chr19:18389609-18390939	HepG2	liver:	n/a	n/a
17	BRCA1	chr19:18390203-18390970	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr19:18388845-18390735	K562	blood:	n/a	n/a
19	CCNT2	chr19:18390098-18393035	K562	blood:	n/a	chr19:18392535-18392544
20	CEBPB	chr19:18389589-18390992	GM12878	blood:	n/a	n/a
21	CEBPB	chr19:18390389-18391008	A549	lung:	n/a	n/a
22	CEBPB	chr19:18390329-18391588	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr19:18390451-18391010	HepG2	liver:	n/a	n/a
24	CEBPD	chr19:18390146-18390693	K562	blood:	n/a	n/a
25	CEBPD	chr19:18388690-18391753	K562	blood:	n/a	n/a
26	CEBPD	chr19:18390194-18390703	HepG2	liver:	n/a	n/a
27	CHD1	chr19:18388700-18394109	IMR90	lung:	n/a	n/a
28	CHD1	chr19:18390126-18392413	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD1	chr19:18389772-18393382	GM12878	blood:	n/a	n/a
30	CHD2	chr19:18388743-18390759	K562	blood:	n/a	n/a
31	CHD2	chr19:18388821-18390950	HepG2	liver:	n/a	n/a
32	CHD2	chr19:18389883-18391516	GM12878	blood:	n/a	n/a
33	CHD2	chr19:18390268-18390866	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr19:18390263-18390730	Hela-S3	cervix:	n/a	n/a
35	CREB1	chr19:18390197-18390684	A549	lung:	n/a	n/a
36	CREB1	chr19:18390123-18394065	HepG2	liver:	n/a	n/a
37	CTCF	chr19:18389205-18390827	HCT-116	colon:	n/a	n/a
38	CTCF	chr19:18388913-18393950	SK-N-SH	brain:	n/a	chr19:18392415-18392428
39	CTCF	chr19:18390016-18390667	MCF-7	breast:	n/a	n/a
40	CTCF	chr19:18390055-18390713	K562	blood:	n/a	n/a
41	CTCF	chr19:18389354-18390827	A549	lung:	n/a	n/a
42	CUX1	chr19:18390178-18390783	K562	blood:	n/a	n/a
43	CUX1	chr19:18390192-18390983	GM12878	blood:	n/a	n/a
44	E2F4	chr19:18389909-18391556	MCF10A-Er-Src	breast:	n/a	chr19:18390511-18390521 chr19:18390359-18390374 chr19:18390359-18390369 chr19:18390530-18390540
45	EBF1	chr19:18390318-18391511	GM12878	blood:	n/a	chr19:18391208-18391219
46	EGR1	chr19:18390236-18390711	K562	blood:	n/a	chr19:18390485-18390499 chr19:18390484-18390497 chr19:18390487-18390496 chr19:18390516-18390526 chr19:18390483-18390498
47	EGR1	chr19:18390206-18390670	H1-hESC	embryonic stem cell:	n/a	chr19:18390485-18390499 chr19:18390484-18390497 chr19:18390487-18390496 chr19:18390516-18390526 chr19:18390483-18390498
48	EGR1	chr19:18390212-18390743	ECC-1	luminal epithelium:	n/a	chr19:18390485-18390499 chr19:18390484-18390497 chr19:18390487-18390496 chr19:18390516-18390526 chr19:18390483-18390498
49	EGR1	chr19:18389743-18391239	HCT-116	colon:	n/a	chr19:18390485-18390499 chr19:18390484-18390497 chr19:18390487-18390496 chr19:18390516-18390526 chr19:18390483-18390498
50	EGR1	chr19:18390269-18390731	MCF-7	breast:	n/a	chr19:18390485-18390499 chr19:18390484-18390497 chr19:18390487-18390496 chr19:18390516-18390526 chr19:18390483-18390498

No data

(count:50 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18313702..18316146-chr19:18389721..18392001,2	MCF-7	breast:
2	chr19:18332417..18336925-chr19:18388887..18394072,11	K562	blood:
3	chr19:18389965..18390859-chr19:18432817..18433745,4	MCF-7	breast:
4	chr19:18388423..18395098-chr19:18483334..18487110,13	K562	blood:
5	chr19:18388462..18393408-chr19:18545945..18551144,14	K562	blood:
6	chr19:18311216..18316508-chr19:18389022..18394678,9	MCF-7	breast:
7	chr19:18276990..18278607-chr19:18389377..18392205,2	K562	blood:
8	chr19:17970685..17972578-chr19:18389953..18392713,2	K562	blood:
9	chr19:18342752..18344966-chr19:18388974..18391959,2	K562	blood:
10	chr19:18390025..18394312-chr19:18496571..18499733,6	MCF-7	breast:
11	chr19:18388917..18393354-chr19:18447866..18453758,9	MCF-7	breast:
12	chr19:18388723..18391469-chr19:18447700..18450655,3	MCF-7	breast:
13	chr19:18389237..18391890-chr19:18553028..18555362,2	K562	blood:
14	chr19:18223413..18225267-chr19:18389021..18391701,2	MCF-7	breast:
15	chr19:18311642..18316628-chr19:18388957..18392513,10	K562	blood:
16	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
17	chr19:18388807..18393519-chr19:18545945..18551144,10	K562	blood:
18	chr19:18262621..18264588-chr19:18388729..18391542,2	MCF-7	breast:
19	chr19:18389771..18390844-chr19:18438850..18439790,3	K562	blood:
20	chr19:18361226..18363795-chr19:18390470..18392704,3	MCF-7	breast:
21	chr19:18389073..18391254-chr19:18491178..18493280,2	K562	blood:
22	chr19:18390152..18390835-chr19:18402706..18403213,2	Hela-S3	cervix:
23	chr19:18303093..18307365-chr19:18386584..18393500,10	K562	blood:
24	chr19:18263876..18266605-chr19:18389709..18392510,4	K562	blood:
25	chr19:18207827..18209431-chr19:18390333..18393371,3	K562	blood:
26	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
27	chr19:18390598..18392958-chr5:172754478..172756300,2	MCF-7	breast:
28	chr19:18389852..18391307-chr19:18434096..18435200,12	MCF-7	breast:
29	chr19:18384108..18395354-chr19:18534355..18544725,18	K562	blood:
30	chr19:18313659..18316582-chr19:18386529..18393683,9	K562	blood:
31	chr19:18301148..18305001-chr19:18389528..18394862,10	MCF-7	breast:
32	chr19:18303589..18305920-chr19:18390305..18393671,4	K562	blood:
33	chr19:18260692..18269532-chr19:18383927..18395911,19	K562	blood:
34	chr19:18389877..18390868-chr19:18433805..18434780,6	K562	blood:
35	chr19:18387676..18394124-chr19:18495437..18503905,30	K562	blood:
36	chr19:18334725..18337698-chr19:18389039..18394023,6	K562	blood:
37	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
38	chr19:18389320..18390897-chr19:18488070..18489594,2	MCF-7	breast:
39	chr19:18389169..18391132-chr19:18534059..18535898,2	K562	blood:
40	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
41	chr19:18382564..18395263-chr19:18409643..18446343,165	MCF-7	breast:
42	chr19:18375824..18378589-chr19:18388804..18391228,3	MCF-7	breast:
43	chr19:18364058..18367893-chr19:18389808..18392798,4	MCF-7	breast:
44	chr19:18300044..18302631-chr19:18389476..18391618,2	K562	blood:
45	chr19:18390145..18394362-chr19:18451018..18457221,11	MCF-7	breast:
46	chr19:18388472..18395098-chr19:18481027..18487774,21	K562	blood:
47	chr19:18328659..18330867-chr19:18389570..18391557,2	K562	blood:
48	chr19:18206801..18208746-chr19:18390259..18392773,3	K562	blood:
49	chr19:18102794..18104652-chr19:18390002..18391507,2	K562	blood:
50	chr19:18302575..18305285-chr19:18390568..18392250,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR3188	TF binding region
ENSG00000269145	chromatin interactions
ENSG00000099308	chromatin interactions
ENSG00000130520	chromatin interactions
ENSG00000105650	chromatin interactions
ENSG00000105647	chromatin interactions
ENSG00000256989	chromatin interactions
ENSG00000264175	chromatin interactions
ENSG00000268650	chromatin interactions
ENSG00000130513	chromatin interactions
ENSG00000221167	chromatin interactions
ENSG00000254858	chromatin interactions
ENSG00000105649	chromatin interactions
ENSG00000130511	chromatin interactions
ENSG00000130517	chromatin interactions
ENSG00000239821	chromatin interactions
ENSG00000105655	chromatin interactions
ENSG00000105640	chromatin interactions
ENSG00000268173	chromatin interactions
ENSG00000113739	chromatin interactions

Extended variants
information (count: 0)
Associated
traits (count: 58 )

No data

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18388800-18390800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:18388800-18390800	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
3	chr19:18388800-18391600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:18388800-18391600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
5	chr19:18389000-18391600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:18389000-18391600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
7	chr19:18389000-18391600	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr19:18389000-18392000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
9	chr19:18389000-18392200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
10	chr19:18389000-18392200	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
11	chr19:18389600-18392400	Active TSS	HSMMtube	muscle
12	chr19:18389800-18393200	Active TSS	Aorta	Aorta
13	chr19:18389800-18393200	Active TSS	Small Intestine	intestine
14	chr19:18389800-18393600	Active TSS	Ovary	ovary
15	chr19:18389800-18393800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr19:18390000-18391200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:18390000-18391200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:18390000-18391400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr19:18390000-18392200	Active TSS	Placenta Amnion	Placenta Amnion
20	chr19:18390000-18392400	Active TSS	Gastric	stomach
21	chr19:18390000-18393000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:18390000-18393200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr19:18390000-18393200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:18390000-18393400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:18390000-18393600	Active TSS	Esophagus	oesophagus
26	chr19:18390000-18393800	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr19:18390000-18394000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr19:18390200-18391200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:18390200-18391200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:18390200-18392000	Active TSS	Right Atrium	heart
31	chr19:18390200-18392200	Active TSS	Fetal Kidney	kidney
32	chr19:18390200-18392200	Active TSS	Fetal Lung	lung
33	chr19:18390200-18392200	Active TSS	Stomach Mucosa	stomach
34	chr19:18390200-18392400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:18390200-18392400	Active TSS	NH-A	brain
36	chr19:18390200-18392400	Active TSS	NHLF	lung
37	chr19:18390200-18393000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:18390200-18393000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:18390200-18393000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:18390200-18393000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:18390200-18393000	Active TSS	Muscle Satellite Cultured Cells	--
42	chr19:18390200-18393000	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr19:18390200-18393000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:18390200-18393000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:18390200-18393000	Active TSS	Brain Substantia Nigra	brain
46	chr19:18390200-18393000	Active TSS	Colonic Mucosa	Colon
47	chr19:18390200-18393000	Active TSS	Thymus	Thymus
48	chr19:18390200-18393000	Active TSS	GM12878-XiMat	blood
49	chr19:18390200-18393000	Active TSS	Hela-S3	cervix
50	chr19:18390200-18393000	Active TSS	HSMM	muscle

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